Nucleotide change

Mutation type

Protein change

Reference

c.?

Deletion

p.0

[15]

c.24A > T

Missense

p.Lys8Ans

[16]

c.31_50del20

Deletion

p.Leu11Glyfs*20

[17]

c.37delC

Deletion

p.Leu13Cysfs*2

[18]

c.50dupT

Duplication

p.Leu17Phefs*21

[19]

c.50_53delTGGT

Deletion

p.Leu*17

[20]

c.61 + 1G > A

Missense

p.?

[14]

c.61 + 10G > A

Splice Site

p.?

[21]

c.65delA

Deletion

p.Asp22Alafs*3

[14]

c.69delT

Deletion

p.Val24*

[14]

c.74_78delAGCCGins176bp

Delins

p.?

[19]

c.81dupT

Duplication

p.Arg28Serfs*10

[22]

c.86delG

Deletion

p.Gly29Alafs*4

[23]

c.88C > T

Missense

p.Pro30Ser

[24]

c.95T > G

Missense

p.Val32Gly

[25]

c.100dupT

Duplication

p.Cys34Leufs*4

[19]

c.100_115del16

Deletion

p.Cys34Hisfs*15

[26]

c.101G > A

Missense

p.Cys34Tyr

[24]

c.102C > A

Missense

p.Cys34*

[25]

c.106T > C

Missense

p.Cys36Arg

[14]

c.107G > A

Missense

p.Cys36Tyr

[27]

c.115_118dupCCAC

Duplication

p.His40Profs*130

[28]

c.121T > C

Missense

p.Cys41Arg

[28]

c.128_132delGGCCT

Deletion

p.Gly43Aspfs*124

[29]

c.129delG

Deletion

p.Pro44Leufs*10

[14]

c.136_137delTGinsCT

Delins

p.Cys46Leu

[29]

c.138C > A

Missense

p.Cys46*

[19]

c.139_140insCG

Insertion

p.Arg47Profs*8

[30]

c.139dupC

Duplication

p.Arg47Profs*122

[24]